BES2004 Poster Presentations Clinical case reports (56 abstracts)
Department of Medicine, University of Wales College of Medicine, Cardiff, UK.
We present two patients who were originally diagnosed with polycystic ovarian syndrome (PCOS). A 23 year old was referred with deteriorating hirsutism. Her menstrual cycle was reported as entirely regular following the menarche at age 13. Examination revealed her to be obese with a body mass index of 33 and hirsute, with a Ferriman and Gallway score of 19. She had a typical PCOS appearance on trans-vaginal ultrasound scan. Additional investigations in endocrine clinic revealed a testosterone concentration of 2.9 nmol/l (Normal range (NR) < 3) and a 17 hydroxyprogesterone (17-OHP) concentration of 14.9 (NR<20). As her 17-OHP concentration was greater than 6 nmol/l she underwent a short synacthen test where her baseline 17OHP rose to 40.4 nmol/l thirty minutes after 250 micrograms of IV synacthen. This confirmed diagnosis of late-onset CAH and prednisolone 5 mg per day was started. A 21year old female,originally from Venezuela, was referred by her general practitioner suffering with hirsutism. Before emigration she had been investigated and informed that she had thyrotoxicosis and PCOS. Her menstrual cycles were regular since the age of 12. On examination she had facial hirsutism with a Ferriman and Gallway score of 12, and a BMI of 26. Investigations revealed testosterone concentration of 3.4 nmol/l, and a DHEAS of 9.4 micromol/l. Her baseline 17-OHP was 22 nmol/l and following synacthen rose from 22 to 76.9 nmol/l, once again confirming the diagnosis of CAH. She was commenced on prednisolone 5 mg daily. Both patients have had an improvement of their hirsutism since commencing steroids.These cases highlight the need to exclude late-onset CAH in patients with hirsutism even when their 17OHP levels are normal or only marginally raised.